Objective: To determine the usefulness of semiconductor-based next-generation sequencing (NGS) for cleavage-stage preimplantation genetic diagnosis (PGD) of aneuploidy.
Design: Prospective case-control study.
Setting: A private center for reproductive medicine.
Patient(s): A total of 45 patients underwent day-3 embryo biopsy with PGD and fresh cycle transfer. Additionally, 53 patients, matched according to age, anti-Müllerian hormone levels, antral follicles count, and infertility duration were selected as controls.
Intervention(s): Choice of embryos for transfer was based on the PGD NGS results.
Main outcome measure(s): Clinical pregnancy rate (PR) per embryo transfer (ET) was the primary outcome. Secondary outcomes were implantation and miscarriage rates.
Result(s): The PR per transfer was higher in the NGS group (84.4% vs. 41.5%). The implantation rate (61.5% vs. 34.8%) was higher in the NGS group. The miscarriage rate was similar in the 2 groups (2.8% vs. 4.6%).
Conclusion(s): We demonstrate the technical feasibility of NGS-based PGD involving cleavage-stage biopsy and fresh ETs. Encouraging data were obtained from a prospective trial using this approach, arguing that cleavage-stage NGS may represent a valuable addition to current aneuploidy screening methods. These findings require further validation in a well-designed randomized controlled trial.
Clinical trial registration number: ACTRN12614001035617.
Keywords: Next-generation sequencing; aneuploidy screening; genotyping; preimplantation genetic diagnosis; semiconductor-based sequencer.
Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.